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Aliases for MPZ Gene

Aliases for MPZ Gene

  • Myelin Protein Zero 2 3 4
  • Charcot-Marie-Tooth Neuropathy 1B 2 3
  • Myelin Peripheral Protein 3 4
  • CMTDID 3 6
  • CMT1B 3 6
  • DSS 3 6
  • MPP 3 4
  • CHM 3 6
  • Myelin Protein P0 3
  • CMTDI3 3
  • HMSNIB 3
  • CMT4E 3
  • CMT2I 3
  • CMT2J 3
  • CMT1 3
  • P0 3

External Ids for MPZ Gene

Previous Symbols for MPZ Gene

  • CMT1
  • CMT1B

Summaries for MPZ Gene

Entrez Gene Summary for MPZ Gene

  • This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010]

GeneCards Summary for MPZ Gene

MPZ (Myelin Protein Zero) is a Protein Coding gene. Diseases associated with MPZ include roussy-levy syndrome and charcot-marie-tooth disease. Among its related pathways are Neural Crest Differentiation and Cell adhesion molecules (CAMs). GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL1.

UniProtKB/Swiss-Prot for MPZ Gene

  • Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae

Gene Wiki entry for MPZ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPZ Gene

Genomics for MPZ Gene

Genomic Location for MPZ Gene

Start:
161,304,735 bp from pter
End:
161,309,972 bp from pter
Size:
5,238 bases
Orientation:
Minus strand

Genomic View for MPZ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MPZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZ Gene

Regulatory Elements for MPZ Gene

Proteins for MPZ Gene

  • Protein details for MPZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25189-MYP0_HUMAN
    Recommended name:
    Myelin protein P0
    Protein Accession:
    P25189
    Secondary Accessions:
    • Q16072
    • Q5VTH4
    • Q92677
    • Q9BR67

    Protein attributes for MPZ Gene

    Size:
    248 amino acids
    Molecular mass:
    27555 Da
    Quaternary structure:
    • Homodimer and homotetramer.
    SequenceCaution:
    • Sequence=AAH06491.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP35411.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03540.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36330.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70270.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW52606.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MPZ Gene

    Alternative splice isoforms for MPZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPZ Gene

Proteomics data for MPZ Gene at MOPED

Post-translational modifications for MPZ Gene

Other Protein References for MPZ Gene

No data available for DME Specific Peptides for MPZ Gene

Domains for MPZ Gene

Gene Families for MPZ Gene

HGNC:
  • VSET :Immunoglobulin superfamily / V-set domain containing

Suggested Antigen Peptide Sequences for MPZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25189

UniProtKB/Swiss-Prot:

MYP0_HUMAN
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.:
    • P25189
Family:
  • Belongs to the myelin P0 protein family.:
    • P25189
genes like me logo Genes that share domains with MPZ: view

Function for MPZ Gene

Molecular function for MPZ Gene

GENATLAS Biochemistry: myelin protein zero,14.8kDa,adhesion molecule,expressed in Schwann all of the peripheral nervous sytem,involved in formation and maintenance of compact myelin
UniProtKB/Swiss-Prot Function: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae

Gene Ontology (GO) - Molecular Function for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 7693129
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MPZ: view
genes like me logo Genes that share phenotypes with MPZ: view

Animal Models for MPZ Gene

MGI Knock Outs for MPZ:

miRNA for MPZ Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MPZ Gene

Localization for MPZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZ Gene

Cell membrane; Single-pass type I membrane protein.
Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPZ Gene COMPARTMENTS Subcellular localization image for MPZ gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane NAS 7693130
GO:0005887 integral component of plasma membrane IEA --
GO:0016021 integral component of membrane --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with MPZ: view

Pathways for MPZ Gene

genes like me logo Genes that share pathways with MPZ: view

Pathways by source for MPZ Gene

1 BioSystems pathway for MPZ Gene
1 KEGG pathway for MPZ Gene

Gene Ontology (GO) - Biological Process for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 7693129
GO:0008219 cell death --
GO:0045217 cell-cell junction maintenance IEA --
genes like me logo Genes that share ontologies with MPZ: view

Compounds for MPZ Gene

(33) Novoseek inferred chemical compound relationships for MPZ Gene

Compound -log(P) Hits PubMed IDs
2,3-cyclic nucleotide 84.5 10
dihydroprogesterone 70.1 4
benzyldimethyl-n-hexadecylammonium chloride 64 1
glatiramer acetate 48.7 3
sulfatide 40.3 2
genes like me logo Genes that share compounds with MPZ: view

Transcripts for MPZ Gene

mRNA/cDNA for MPZ Gene

Unigene Clusters for MPZ Gene

Myelin protein zero:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPZ Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - -
SP2: -
SP3:
SP4: -

Relevant External Links for MPZ Gene

GeneLoc Exon Structure for
MPZ
ECgene alternative splicing isoforms for
MPZ

Expression for MPZ Gene

mRNA expression in normal human tissues for MPZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPZ Gene

This gene is overexpressed in Nerve - Tibial (45.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPZ Gene

SOURCE GeneReport for Unigene cluster for MPZ Gene Hs.591486

mRNA Expression by UniProt/SwissProt for MPZ Gene

P25189-MYP0_HUMAN
Tissue specificity: Found only in peripheral nervous system Schwann cells
genes like me logo Genes that share expressions with MPZ: view

Orthologs for MPZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPZ 35
  • 99.33 (n)
  • 99.6 (a)
MPZ 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MPZ 35
  • 91.53 (n)
  • 93.22 (a)
MPZ 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPZ 35
  • 91.95 (n)
  • 95.76 (a)
MPZ 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpz 35
  • 91.24 (n)
  • 93.64 (a)
Mpz 16
Mpz 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPZ 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpz 35
  • 90.82 (n)
  • 93.22 (a)
chicken
(Gallus gallus)
Aves LOC100859605 35
  • 72.6 (n)
  • 72.88 (a)
MPZ 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpz 35
  • 68.7 (n)
  • 65.5 (a)
zebrafish
(Danio rerio)
Actinopterygii mpz 35
  • 56.07 (n)
  • 50.26 (a)
mpz 36
  • 48 (a)
OneToOne
Species with no ortholog for MPZ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPZ Gene

ENSEMBL:
Gene Tree for MPZ (if available)
TreeFam:
Gene Tree for MPZ (if available)

Paralogs for MPZ Gene

Paralogs for MPZ Gene

Selected SIMAP similar genes for MPZ Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MPZ: view

Variants for MPZ Gene

Sequence variations from dbSNP and Humsavar for MPZ Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3813630 -- 161,310,459(+) GTCCT(A/G)TGGGA upstream-variant-2KB
rs3813631 -- 161,310,594(+) TCATG(A/C)TGCTG upstream-variant-2KB
rs4072409 -- 161,307,957(-) TATAT(C/T)TTGAG intron-variant
rs6660336 -- 161,311,090(+) gtagt(A/C)ccagc upstream-variant-2KB
rs6674383 -- 161,306,644(+) AACCT(A/G)TCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPZ Gene

Variant ID Type Subtype PubMed ID
nsv517826 CNV Gain 19592680

Relevant External Links for MPZ Gene

HapMap Linkage Disequilibrium report
MPZ
Human Gene Mutation Database (HGMD)
MPZ
Locus Specific Mutation Databases (LSDB)
MPZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPZ Gene

Disorders for MPZ Gene

(7) OMIM Diseases for MPZ Gene (159440)

UniProtKB/Swiss-Prot

MYP0_HUMAN
  • Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269 PubMed:10214757, ECO:0000269 PubMed:10545037, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10965800, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11445635, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12221176, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12707985, ECO:0000269 PubMed:12845552, ECO:0000269 PubMed:14711881, ECO:0000269 PubMed:15036333, ECO:0000269 PubMed:16488608, ECO:0000269 PubMed:7504284, ECO:0000269 PubMed:7505151, ECO:0000269 PubMed:7527371, ECO:0000269 PubMed:7530774, ECO:0000269 PubMed:7550231, ECO:0000269 PubMed:7688964, ECO:0000269 PubMed:7693129, ECO:0000269 PubMed:7693130, ECO:0000269 PubMed:7694726, ECO:0000269 PubMed:8664899, ECO:0000269 PubMed:8797476, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:8835320, ECO:0000269 PubMed:8844219, ECO:0000269 PubMed:8990016, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9217235, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9633821, ECO:0000269 Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:14638973, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:9595994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. {ECO:0000269 PubMed:10071056, ECO:0000269 PubMed:11080237, ECO:0000269 PubMed:15326256, ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. {ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:10406984}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11596785, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:7506095, ECO:0000269 PubMed:8630052, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9222756, ECO:0000269 PubMed:9452055, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. {ECO:0000269 PubMed:10553995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for MPZ Gene

(49) Novoseek inferred disease relationships for MPZ Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 96.4 139
dejerine-sottas disease 95.4 26
hereditary neuropathy 92.5 18
neuropathy, congenital hypomyelinating 92.3 7
demyelination 85.6 26

Relevant External Links for MPZ

GeneTests
MPZ
GeneReviews
MPZ
Genetic Association Database (GAD)
MPZ
Human Genome Epidemiology (HuGE) Navigator
MPZ
genes like me logo Genes that share disorders with MPZ: view

Publications for MPZ Gene

  1. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (PMID: 10071056) De Jonghe P. … Van Broeckhoven C. (Brain 1999) 3 4 23 48
  2. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). (PMID: 11080237) Misu K. … Sobue G. (J. Neurol. Neurosurg. Psych. 2000) 3 4 23 48
  3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 4 23 48
  4. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. (PMID: 7693129) Hayasaka K. … Chance P.F. (Nat. Genet. 1993) 2 3 4 48
  5. Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero gene mutation. (PMID: 12221176) Watanabe M. … Shoji S. (Neurology 2002) 3 4 23

Products for MPZ Gene

Sources for MPZ Gene

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